Varaico: Literature-Extracted Genetic Variants

MYH7

2,286 papers

RefSeq Summary

Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit o...

Pfam Domains

Myosin_Naa 32–76UCSCMyosin N-terminal SH3-like domain

Myosin_headaa 87–766UCSCMyosin head (motor domain)

Myosin_tail_1aa 843–1924UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 7

HGNC Previous Symbols

CMH1; MPD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_000257.4

p.Y1488C

c.4463A>G

Surrounding Variants

3 papers

NM_000257.4

p.A1487T

c.4459G>A

1 paper

NM_000257.4

p.N1486D

c.4456A>G

33 papers

NM_000257.4

p.S1491C

c.4472C>G

1 paper

NM_000257.4

p.K1485R

c.4454A>G

1 paper

NM_000257.4

p.K1485Q

c.4453A>C

4 papers

NM_000257.4

p.L1492P

c.4475T>C

3 papers

NM_000257.4

p.L1484P

c.4451T>C

1 paper

NM_000257.4

p.L1492delFs

c.4475delA

1 paper

NM_000257.4

p.H1494Y

c.4480C>T

2 papers

NM_000257.4

p.H1494L

c.4481A>T

3 papers

NM_000257.4

p.L1481P

c.4442T>C

1 paper

NM_000257.4

p.L1481F

c.4441C>T